| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843706G>A | CA114369 | PAH | c.1139C>T (p.Thr380Met) c.1124C>T (p.Thr375Met) n.898C>T n.801C>T c.243C>T n.654C>T c.1082C>T (p.Thr361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>C | CA386493234 | PAH | c.1139C>G (p.Thr380Arg) c.1124C>G (p.Thr375Arg) n.898C>G n.801C>G c.243C>G n.654C>G c.1082C>G (p.Thr361Arg) | dbSNP |
| 12 | g.102843706G= | CA2059446579 | PAH | c.1139C= (p.Thr380=) c.1124C= (p.Thr375=) n.898C= n.801C= c.243C= n.654C= c.1082C= (p.Thr361=) | dbSNP |